Grand Rounds ERN-EYE Transnational (GREET) Meeting on Paediatrics
On 27 May 2023
At : Online
Events
NORD Latino/a/x & Hispanohablantes Virtual Community Listening Sessions
On 23 May 2023
At : Online
NORD will be holding a series of Community Listening Sessions for Latino/a/x individuals affected by a rare disease in the United States. The sessions are community-specific, with the exception of the virtual session on 1st June, which is open nation-wide. Below is a list of the different virtual sessions to be held:
- 1 May: New York City, New York
- 22 May: District of Columbia
- 1 June: Nation-wide
- 13 June: Houston, Texas
A number of in-person sessions will also be held.
Rare Barometer webinar: The opinion of people living with a rare disease on newborn screening
On 01 June 2023
At : Online
Endo-ERN webinar: Getting to know virtual consultations
On 02 June 2023
At : Online
EJP RD - ERN Workshop on Fetal and Postnatal multidisciplinary management in RD (Myelomeningocele and Lower urinary tract obstruction, LUTO)
On 05 June 2023
At : Krakow, Poland
ERN-EYE webinar: Genetic testing strategies for rare eye diseases
On 06 June 2023
At : Online
ERKNet/ERA webinar: "Physiology of Podocytopathies" by Tobias Huber
On 07 June 2023
At : Online
FDA & Duke-Margolis Center for Health Policy: Rare Disease Endpoint Advancement Pilot Program Workshop
From 08 to 09 June 2023
At : Online
ERN GENTURIS webinar: New ERN GENTURIS NF1 guidelines and update on NF2 and SCHWN nomenclature
On 08 June 2023
At : Online
European Society of Human Genetics 2023 Conference
From 11 to 14 June 2023
At : Glasgow, Scotland, UK (hybrid)
EUROMIT2023: 11th European Meeting on Mitochondrial Pathology
From 12 to 16 June 2023
At : Bologna, Italy
15th Congress of the European Paediatric Neurology Society
From 21 to 25 June 2023
At : Prague, Czech Republic
ERN-RND joint webinar: Haematopoietic stem cell transplantation in leukodystrophies
On 21 June 2023
At : Online
Endo-ERN webinar: Puberty induction in the two sexes - a case-based discussion
On 21 June 2023
At : Online
ERN GENTURIS webinar: von Hippel-Lindau disease - the endocrinologist's perspective
On 23 June 2023
At : Online
ESE Talks Rare Diseases webinar series: Use of EuRRECa databases to enhance our understanding of XLH and parathyroid carcinoma
On 28 June 2023
At : Online
ERKNet/ERA webinar: "Immune glomerulopathies: a pathogenesis and treatment-oriented approach for clinical management" by Paola Romagnani
On 28 June 2023
At : Online
ERN-RND joint webinar: Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities
On 28 June 2023
At : Online
ERN-EYE webinar: Foveal hypoplasia: A big diagnostic dilemma
On 30 June 2023
At : Online
ERICA 3rd General Assembly
From 07 to 08 July 2023
At : Madrid, Spain
ERO-NMD joint webinar: Cardiac involvement in neuromuscular diseases
On 07 July 2023
At : Online
Transition Care Network webinar series: Transition for people with a rare disease
On 13 July 2023
At : Online
2023 CTX International Scientific Meeting
From 28 to 29 August 2023
At : Jerusalem, Israel
Global Alliance for Genomics & Health 11th Plenary
From 20 to 23 September 2023
At : San Francisco, USA (hybrid)
NORD Rare Diseases + Orphan Products Breakthrough Summit
From 16 to 18 October 2023
At : Washington DC, USA
International Symposium on Triglyceride/Neutral Lipid and Rare Diseases
From 22 to 23 October 2023
At : Kyoto, Japan
American Society of Human Genetics 2023 Annual Meeting
From 02 to 06 November 2023
At : Washington DC, USA
6th International Primary Immunodeficiencies Congress (IPIC2023)
From 09 to 11 November 2023
At : Rotterdam, Netherlands
Courses and Educational Initiatives
Cross-ERN Workshop: Liver Transplant for Inborn Errors of Metabolism
From 09 to 10 June 2023
At : Coimbra, Portugal
The Cross-ERN Workshop "Liver Transplant for Inborn Errors of Metabolism" will be held from 8-9 June 2023 in Coimbra, Portugal. Co-organised by the ERNs MetabERN, TransplantChild and RARE-LIVER and supported by the EJP RD, the workshop aims to share knowledge and expertise across Networks to deepen understandings of liver transplantation as a treatment for inborn errors of metabolism. Discussion will cover topics such as optimal timing and indications for combined liver-kidney transplant. The workshop is aimed at physicians, patient associations and patient advocacy organisations from the participating ERNs. Those who are interested in participating are invited to contact ERN.RareLiver@uke.de for more information.
EJP RD rare diseases training for paediatric patients
From 22 to 24 June 2023
At : Barcelona, Spain
From 21-23 June 2023, a workshop for youth aged 12-18 will be held in Barcelona, Spain in the framework of the EJP RD. The programme, designed for paediatric patients with an interest in health, biomedical research, and children's rights, aims to give participants the skills and knowledge needed to empower them to become active contributors to scientific research and healthcare service improvement.
There is no fee to participate, and selected participants will also have their travel and accommodation costs covered. The deadline to apply is May 31st, 2023. The workshop is organised by the TEDDY European Network of Excellence for Paediatric Research, in collaboration with EURORDIS and the Sant Joan de Déu Research Foundation.
Recordati Foundation course on "Genetic Therapies"
From 23 to 25 June 2023
At : Heidelberg, Germany
From 22-24 June 2023 in Heidelberg, Germany, the Recordati Foundation will be organising a course on genetic therapies for rare diseases. The course is aimed at healthcare professionals and scientists with an interest in the subject matter, as well as industry representatives and regulators involved in gene therapy development and licensing. The programme will consist of a series of expert lectures, workshops, and panel discussions. The deadline for registration is 5th May 2023.
INTINERARE 9th Rare Disease Summer School
From 05 to 08 July 2023
At : Zurich, Switzerland
From 4-7 July 2023, the University of Zurich's ITINERARE program will be organising their 9th Rare Disease Summer School on the topic of "Innovative Therapies in Rare Diseases."
Participants will attend expert lectures, workshops, poster viewing sessions, and oral presentations, all with the goal of providing a comprehensive overview of the different aspects of rare disease care and research. The School is primarily aimed at clinicians, physician-scientists, postdocs, and PhD students. Travel grants are also available for some eligible participants.
EURO-NMD 5th Neuromuscular Translational Summer School
From 11 to 15 July 2023
At : Leiden, Netherlands
In collaboration with TREAT-NMD, EURO-NMD will be hosting their 5th annual neuromuscular translational summer school from 10-14 July 2023 in Leiden, Netherlands. The Summer School will present lectures about the management of neuromuscular diseases, drug development, and patient communication and engagement.
EJP RD International summer school on rare disease registries and FAIRification of data
From 26 to 30 September 2023
At : Rome, Italy
From 25-29 September in Rome, Italy, the Istituto Superiore di Sanità and partners are organising a training course on rare disease registries and FAIRification of data, within the context of the EJP RD. The Summer School consists of two modules, which can be registered for separately: "Rare Disease Registries," from 25-27 September, and "FAIRification of data," from 28-29 September. Three fellowships are available for participants living in an EU-13 Country or in Turkey, with an additional three available for patient representatives. Applications must be submitted by 22 May, 2023.
ESMO Preceptorship on Hereditary Cancer Genetics 2023: Paris
From 30 September to 01 October 2023
At : Paris, France
From 29-30 September 2023, the European Society for Medical Oncology (ESMO) will be hosting a course on the prevention, diagnosis, treatment, and management of hereditary cancers. It is aimed at oncologists residing in Europe, but is open to all ESMO members. For successful applicants, there is no cost to apply and accommodation will be provided. A travel grant of up to 400 EUR is also available to help cover travel costs. Applications for the course will close on 27 June 2023.
EJP RD 5th International Training Course on "Quality assurance, variant interpretation, and data management in the NGS diagnostic era"
From 19 to 21 October 2023
At : Warsaw, Poland
The 5th International Training Course on "Quality assurance, variant interpretation and data management in the NGS diagnostic era" will be organised from 18-20 October 2023 in the framework of the EJP RD. The main goal of the course is to keep researchers and clinicians up to date on the latest techniques and practices related to next-generation sequencing (NGS) and variant interpretation. It is open to participants from the international research community, including clinicians, specialists, policy makers, and patient representatives (among others) with a basic knowledge in biology or medicine. The deadline to register is June 20th, 2023.
ERN-RND and EURO-NMD joint webinars 2023
The European Reference Network for Rare Neurological Diseases (ERN-RND) organises joint free educational webinars on rare neurological and movement disorders with EAN. These 1-hour webinars take place throughout the year and are presented by international experts. They discuss various aspects from more general clinical features, examination, disease diagnosis, medical interventions, and disease management to more specific ones as use of scales or imaging. Adult and paediatric neurology are both covered.
Further information about ERN-RND webinars in collaboration with EURO-NMD and the European Academy of Neurology (EAN) is available here.
EJP RD Leadership and Communication Skills Training for patient representatives and advocates
From 27 to 28 October 2023
At : Gdańsk, Poland
As part of the training activities proposed by the EJP RD, a course aimed at patient representatives titled "Training for patient representatives and advocates on leadership and communication skills" will be offered from 26-27 October 2023. Organised by Medical University of Gdańsk in collaboration with EURORDIS, the 2-day training and preparatory activities aims to teach participants presentation, negotiation and leadership skills through a range of activities.
The training will be free of charge for selected participants. There are also 21 fellowships available to help cover travel expenses up to 435€. The EJP RD is committed to ensuring that the training is accessible to patient representatives and advocates from all backgrounds, with those from Eastern Europe particularly encouraged to apply.
Applications for the training as well as the travel fellowship must be submitted before 26 April 2023.
Recordati Foundation 2023 live courses programme
Throughout the year, the Recordati Foundation is organising a series of courses to help advance knowledge in rare diseases. The programme contains the following sessions:
- Genetic therapies: 22-24 June in Heidelberg, Germany
- Non-adenomatous pituitary pathology: 26-28 October in Basel, Switzerland
- Early diagnosis and early treatment of inherited metabolic diseases: 23-25 November in Tokyo, Japan
For more information about the content of the courses and details about registration, please visit the Foundation's website.
EJP RD Funded ERN Training Workshops
The EJP-RD is holding workshops aiming at training ERN researchers and clinicians in relevant innovative themes with a cross-ERN added value. These 2-days ERN workshops are open to interested persons (clinicians/scientists) affiliated to ERNs or Affiliated Partner Institutions.
Training themes may include innovative research methodologies, diagnostic research methodologies, interdisciplinary treatment approaches, such as gene therapy and transplantation, etc. Topics have to be proposed by the ERNs or by investigators belonging to EJP RD beneficiary institutions. Registrations are now open for several workshops.
Grants
Horizon Europe Health Calls 2023
The European Commission's Horizon Europe Health Calls 2023 are now open, with several funding calls specific to rare diseases:
The call “European Partnership on Rare Diseases” is part of Destination 3 “Tackling diseases and reducing disease burden.” It is a single-stage call, and the deadline is 19 September 2023 at 17:00 CEST.
The topic “Modelling and simulation to address regulatory needs in the development of orphan and paediatric medicines” is part of Destination 6 “Maintaining an innovative, sustainable and globally competitive health industry.” It is a single-stage call, and proposals must be submitted before 13 April 2023 at 17:00 CEST.
Canadian Institutes of Health Research: National Pediatric Rare Disease Clinical Trials and Treatment Network
The Canadian Institutes of Health Research has announced an upcoming funding opportunity, "National Pediatric Rare Disease Clinical Trials and Treatment Network." This opportunity is funded under the new National Strategy for Drugs for Rare Diseases. Its specific objectives are:
- To develop a platform to support paediatric rare disease clinical trials in Canada;
- To increase the capacity to perform rare disease clinical trials in Canada;
- To attract international clinical trials;
- To foster diversity and inclusion in and improve access to clinical trials;
- To implement processes to acquire data from clinical trials, real world registries, health economics evaluation, and post-marketing surveillance;
- To increase the number of new rare disease drug submissions for authorisation of commercialisation to Health Canada.
There are up to $20,000,000 available over five fiscal years to fund one Network grant. The deadline to submit Expressions of Interest will be during Summer 2023, and CIHR will schedule a collaboration call with applicants in late summer.
FDA funding opportunity for rare disease research
The Food and Drug Administration’s (FDA) Office of Orphan Products Development (OOPD) has announced a grant to support efficient and innovative natural history studies that advance medical product development in rare diseases with unmet needs. The funding opportunity announcement is entitled “Efficient and Innovative Natural History Studies Addressing Unmet Needs in Rare Diseases (R01) Clinical Trials Not Required”. The purpose of this grant is to address critical knowledge gaps and facilitate rare disease product development.
The receipt dates for this funding opportunity are 15 February 2022 and 13 February 2024.
Job Opportunities
Media
New orphan medicines explainer video from EMA
The EMA has released a new video explaining what orphan medicines are, and the Agency's role in their development. Watch it below!
Watch the recording of the Undiagnosed Day Awareness webinar!
On 29 April, the Undiagnosed Diseases Network International hosted an awareness webinar in partnership with the Wilhelm Foundation. The webinar was a celebration of all those living with an undiagnosed disease and their loved ones, and included presentations on a range of topics such as different national programs, genetic counselling, and the diagnostic odyssey. A recording of the event is now live on the Undiagnosed Day website, as well as on YouTube.